Genetics

Question 1

Which mutation of which thing s

Answer 1

BCL2 - B cell lymphoma 
Apolipoprotein E - Alzheimers Disease 
FBN1 - Marfans Syndrome 
NOTCH 1 - T cell leukaemia 
HOXB13- prostate cancer
BRCA 1 BRCA 2 - OVARIAN AND BREAST CA

Question 2

Trisomy 13 vs 18 vs 21

Answer 2

Patau
2 small - head and eye
Many fingers

Edward
2 small - head and Jaw
2 prominent - Occiput and clacinaus

Down 
slant to eye 
small and depressed nose
abnormal ears 
small and protruded tongue 
single palmar crest 
wide space between 1st and second toe
congenital heart defects - AV septal defect 
Duodenal atresia  - Double bubble sign

Question 3

Prada willi and Angle man syndrome

Answer 3

Chromosome 15
Brother Prada willi is like and Octopus - Floppy (hypotonia ) and Eats a lots (Hyperphagia )
Short stature / Short limbs and Obesity

Question 4

DiGeorge syndrome

CATCH 22

Answer 4

Cardiac abnormalities
Abnormal faces 
Thymic Aplasia 
Cleft palate
Hypocalciaemia / Hypothyroidism 
Chromosome 22

Question 5

Different Genetics summary

Answer 5

Turner’s syndrome(45XO, 45X): 
Short stature*, 
webbed neck, 
coarctation of the aorta*, 
bicuspid aortic valve*, 
shield chest*, 
horse shoe kidney*, 
high arched palate, 
but normal IQ for turner’s*. 

Noonan syndrome: 
Pectus excavatum*(chest wall deformity bcz of ribs), 
pulmonary stenosis* (2 unique), 
short stature, 
webbed neck(similar to turner’s) 

Patau Trisomy 13 –
Holoprosencephaly cyclops,
Microcephalic & micrognathia(d/d Edward ),
small eyes/cyclop eye, cleft lip/palate,
polydactyly* (extra finger),
scalp lesions.

Edward Trisomy 18 – 
abnormal feet and fist* (Rocker bottom feet, Overlapping of fingers) , 
Short stature(d/d: turner’s, Noonan), 
Microcephaly & Micrognathia(small jaw){d/d Patau, Edward} ,
Low-set ears (d/d Down’s), 
prominent occipit, microcephaly, 
Congenital heart disease, 
omphalocele*. 

Down’s syndrome- Trisomy 21:,
protruded tongue,
AV septal defect,
duodenal atresia,
Hirschsprung’s disease (constipation) ,
upslanting palpebral fissures, epicanthic folds,
small low-set ears(d/d Edward),
single palmar crease*,
round flat face,
extra skin on the neck,
Brushfield spots in iris (are small, white or grayish/brown spots on the periphery of the iris in the human eye due to aggregation of connective tissue)

Fragile X syndrome:
Learning difficulties,
Macrocephaly,
long face,
large ears,
macro-orchidism* (large testis, large genital),
learning difficulty* (intellectual disability)

Prader-willi syndrome: 
eats excessively*- 
Obese, 
Hypotonia, 
Hypogonadism, delayed puberty, blond hair, 
mild behavioral problem 

William’s syndrome:
neonatal ↑Ca2+, friendly, extrovert personality

Question 6

Klinefelter

Answer 6

Klinefelter’s :

G-FELTER 
Gynecomastia ; 
Facial hair: low ; 
Estrogen is high but testosterone is low; 
Long limbs; 
Elevated FSH LH; 
Rage:aggresive behaviour.